Y40C (p.Tyr40Cys) variant of POR (NADPH--cytochrome P450 reductase)
Y40C (p.Tyr40Cys) in POR (NADPH--cytochrome P450 reductase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Y40C (p.Tyr40Cys) variant details
- p.Tyr40Cys
- gnomAD 7-75968095-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 16.60
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available